A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5546647



Internal ID320574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:194313433..194313483hg38UCSC Ensembl
chr1:194282563..194282613hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16894413
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5546647
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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